ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2104C>T (p.Arg702Trp) (rs528779319)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155952 SCV000205664 uncertain significance not specified 2013-08-15 criteria provided, single submitter clinical testing The Arg702Trp variant in CDH23 has not been reported in individuals with hearing loss or in large population studies. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Arg702Trp variant may impact the protein, though this information is not predict ive enough to determine pathogenicity. In summary, additional information is nee ded to fully assess the clinical significance of the Arg702Trp variant.
Natera, Inc. RCV001275934 SCV001461614 uncertain significance Usher syndrome type 1 2020-04-15 no assertion criteria provided clinical testing

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